rs104895506

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs104895506(C;T)

Make rs104895506(T;T)

Reference

GRCh37 37.1/132

Chromosome

19

Position

54938096

Gene	NCR1, NLRP7

is a	snp
is	mentioned by
dbSNP	rs104895506
dbSNP (classic)	rs104895506
ClinGen	rs104895506
ebi	rs104895506
HLI	rs104895506
Exac	rs104895506
Gnomad	rs104895506
Varsome	rs104895506
LitVar	rs104895506
Map	rs104895506
PheGenI	rs104895506
Biobank	rs104895506
1000 genomes	rs104895506
hgdp	rs104895506
ensembl	rs104895506
geneview	rs104895506
scholar	rs104895506
google	rs104895506
pharmgkb	rs104895506
gwascentral	rs104895506
openSNP	rs104895506
23andMe	rs104895506
SNPshot	rs104895506
SNPdbe	rs104895506
MSV3d	rs104895506
GWAS Ctlg	rs104895506

Max Magnitude

0

OMIM	609661
Desc
Variant	0003
Related	also

OMIM	231090
Desc
Variant
Related	also

ClinVar
Risk	rs104895506(A;A) rs104895506(T;T)
Alt	rs104895506(A;A) rs104895506(T;T)
Reference	Rs104895506(C;C)
Significance	Pathogenic
Disease	Hydatidiform mole
Variation	info
Gene	NLRP7
CLNDBN	Hydatidiform mole
Reversed	1
HGVS	NC_000019.9:g.55449464G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001653.5,

[PMID 16462743] Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.